Canonical Allele Identifier: CA2473783552

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508618_45508619delinsGC , CM000663.2:g.45508618_45508619delinsGC	GRCh38
NC_000001.10:g.45974290_45974291delinsGC , CM000663.1:g.45974290_45974291delinsGC	GRCh37
NC_000001.9:g.45746877_45746878delinsGC	NCBI36
NG_013378.1:g.13435_13436delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-178_430-177delinsGC MANE Select	ENSP00000383840.4:n.430-178_430-177delinsGC
ENST00000401061.8:c.430-178_430-177delinsGC	ENSP00000383840.4:n.430-178_430-177delinsGC
ENST00000616135.1:c.259-178_259-177delinsGC	ENSP00000478859.1:n.259-178_259-177delinsGC
NM_015506.2:c.430-178_430-177delinsGC	NP_056321.2:n.430-178_430-177delinsGC
XM_005270724.3:c.235-178_235-177delinsGC	XP_005270781.1:n.235-178_235-177delinsGC
XM_011541204.1:c.259-178_259-177delinsGC	XP_011539506.1:n.259-178_259-177delinsGC
NM_001330540.1:c.259-178_259-177delinsGC	NP_001317469.1:n.259-178_259-177delinsGC
XM_005270724.5:c.235-178_235-177delinsGC	XP_005270781.1:n.235-178_235-177delinsGC
NM_015506.3:c.430-178_430-177delinsGC MANE Select	NP_056321.2:n.430-178_430-177delinsGC
NM_001330540.2:c.259-178_259-177delinsGC	NP_001317469.1:n.259-178_259-177delinsGC